Genes associated with idiopathic epilepsies: a current overview

Abstract

Objective: This article aimed to review the latest genes associated with idiopathic focal and generalized epilepsies.Methods: PubMed and Entrez Gene searches pertaining to this work was conducted using specific keyword search terms related to genes and various listed subtopics related to idiopathic epilepsy syndromes.Results: Mutations in the cholinergic receptor, neuronal nicotinic, α2, α4 and β2 subunit genes have been found in autosomal dominant nocturnal frontal lobe epilepsy. Mutations of potassium voltage-gated channel, KQT-like subfamily, members 2 and 3 genes were identified to be responsible for benign familial neonatal seizures. The voltage-gated sodium channel genes and γ-aminobutyric acid receptor α subunit genes may be involved in the pathogenesis of generalized epilepsy with febrile seizure plus. Mutations of γ-aminobutyric acid receptor α1, γ-aminobutyric acid receptor δ, calcium channel voltage-dependent β4 subunit and chloride channel 2 gene are associated with juvenile myoclonic epilepsy. In addition, mutations of leucine-rich, glioma-inactivated 1 gene leads to genetic abnormalities of familial lateral temporal lobe epilepsy. EF-hand domain (C-terminal)-containing 1 gene can cause some patterns of juvenile myoclonic and juvenile absence epilepsies.Discussion: Genetic factors play an important role in idiopathic epilepsy syndromes. Ion channel genes and some non-ion channel genes contribute to the pathogenesis of idiopathic epilepsies. Based on these findings, genetic diagnosis and new treatment strategies to part of idiopathic epilepsies become possible in the future.